G13042A-F3

**Figure 1\. Pedigree diagram for family G13042A\-F3\.**

![](/media/202607/G13042A-F3-pedigree_20260701013123089926.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13042 | m.13042G\>A | G13042A\-F3 | Netherlands | Leigh\-like disease | 2 | 0 | 2007 | [17400793](https://pubmed.ncbi.nlm.nih.gov/17400793/) | Family 2; Family 2 description.; Netherlands; Maastricht/Erasmus mitochondrial diagnostic cohort. |

The **m.13042G\>A** variant in MT\-ND5 was reported in family G13042A\-F3 from Netherlands with leigh\-like disease. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was ataxia, internuclear ophthalmoplegia, walking problems, leigh\-like phenotype.

# Carrier Information

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13042 | m.13042G\>A | G13042A\-F3 | G13042A\-F3\-III1 | Fam | M | Y | Y | A | onset 3 y | 77% | 84% | / | 86%(F) | Ataxia; internuclear ophthalmoplegia; walking problems; Leigh\-like phenotype | Family 2 description.; Source: Patient 2; Complex I/V deficiency. |
| 2 | 13042 | m.13042G\>A | G13042A\-F3 | G13042A\-F3\-II2 | Fam | F | N | N | A | ND | 11% | / | / | 25%(H) | Healthy | Family 2 description.; Source: Mother |
| 3 | 13042 | m.13042G\>A | G13042A\-F3 | G13042A\-F3\-I2 | Fam | F | N | N | A | ND | \<2% | 4\-6% | / | / | Healthy | Family 2 description.; Source: Maternal grandmother |

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